3' Acceptor splice site mutation in intron 50 leads to mild Duchenne muscular dystrophy phenotype.
Kekou
K
K
1st Department of Pediatrics, Athens University, Aghia Sophia Children's Hospital, Greece.
Florentin
L
L
Metaxotou
C
C
D000293:Adolescent; D017398:Alternative Splicing / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation
D018076:DNA, Complementary; D004247:DNA